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Gene : ARL6 Homo sapiens

Name  ? ADP ribosylation factor like GTPase 6 Cytological Location  3q11.2
Brief Description  ADP ribosylation factor like GTPase 6
description  The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
  • synonyms:
  • OTTHUMG00000159189,
  • RP55,
  • BBS3,
  • BBS3,
  • RP55,
  • BC024239,
  • ADP-ribosylation factor-like 6,
  • NM_032146,
  • uc010hoy.6,
  • HGNC:13210,
  • ARL6
  • identifiers:
  • 84100,
  • ENSG00000113966,
  • ARL6

Genome feature

Region: gene ? Length: 50005  
Location: 3:97762581-97812585 Cyto location: 3q11.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 SN Ps

5 Cross References

16 Data Sets

21 Homologues

0 Located Features

90 Rna Seq Results